Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.
Identifieur interne : 000D78 ( Main/Exploration ); précédent : 000D77; suivant : 000D79Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.
Auteurs : Radoslav Mat J [République tchèque] ; Gabor G. Kovacs ; Silvie Johanidesová ; Ji Keller ; Milada Mat J Ková ; Jana Nováková ; Vladimír Sigut ; Otakar Keller ; Robert RusinaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Arginine, Histidine, Prions.
- genetics : Creutzfeldt-Jakob Syndrome, Mutation.
- pathology : Creutzfeldt-Jakob Syndrome.
- physiopathology : Supranuclear Palsy, Progressive.
- DNA Mutational Analysis, Female, Humans, Magnetic Resonance Imaging, Middle Aged.
DOI: 10.1002/mds.24002
PubMed: 22488860
Affiliations:
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Le document en format XML
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Histidine (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Prions (genetics)</term>
<term>Supranuclear Palsy, Progressive (physiopathology)</term>
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<term>Histidine</term>
<term>Prions</term>
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<term>Humans</term>
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